|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0015576,
umls-concept:C0030705,
umls-concept:C0205210,
umls-concept:C0205453,
umls-concept:C0314603,
umls-concept:C0596611,
umls-concept:C1413113,
umls-concept:C1521733,
umls-concept:C1556094,
umls-concept:C1869123,
umls-concept:C2348519
|
|
pubmed:issue |
11
|
|
pubmed:dateCreated |
1998-10-27
|
|
pubmed:abstractText |
We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7+/-3.1 years (mean+/-SD), and loss of ambulance occurred at 38.5+/-2.1 years. Muscle atrophy was predominant in the pelvic and shoulder girdles, and proximal limb muscles. Muscle pathology revealed dystrophic changes. In two families, an identical G to C mutation at position 1080 the in calpain 3 gene was identified, and a frameshift mutation (1796insA) was found in the third family. The former mutation results in a W360R substitution in the proteolytic site of calpain 3, and the latter in a deletion of the Ca2+-binding domain.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Nov
|
|
pubmed:issn |
0148-639X
|
|
pubmed:author |
pubmed-author:AdachiKK,
pubmed-author:AkaikeMM,
pubmed-author:BeckmannJ SJS,
pubmed-author:EndoII,
pubmed-author:FujiwaraTT,
pubmed-author:InuiTT,
pubmed-author:KashiwagiSS,
pubmed-author:KawaiHH,
pubmed-author:KawajiriMM,
pubmed-author:KimuraCC,
pubmed-author:KunishigeMM,
pubmed-author:MatsumotoTT,
pubmed-author:MiyoshiKK,
pubmed-author:NishidaYY,
pubmed-author:NishinoHH,
pubmed-author:OkunoSS,
pubmed-author:RichardII,
pubmed-author:RoudautCC
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
21
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1493-501
|
|
pubmed:dateRevised |
2008-11-21
|
|
pubmed:meshHeading |
pubmed-meshheading:9771675-Age of Onset,
pubmed-meshheading:9771675-Biopsy,
pubmed-meshheading:9771675-Calpain,
pubmed-meshheading:9771675-Child,
pubmed-meshheading:9771675-DNA Mutational Analysis,
pubmed-meshheading:9771675-Exons,
pubmed-meshheading:9771675-Family Health,
pubmed-meshheading:9771675-Female,
pubmed-meshheading:9771675-Haplotypes,
pubmed-meshheading:9771675-Humans,
pubmed-meshheading:9771675-Isoenzymes,
pubmed-meshheading:9771675-Japan,
pubmed-meshheading:9771675-Male,
pubmed-meshheading:9771675-Microscopy, Electron,
pubmed-meshheading:9771675-Middle Aged,
pubmed-meshheading:9771675-Muscle, Skeletal,
pubmed-meshheading:9771675-Muscle Fibers, Skeletal,
pubmed-meshheading:9771675-Muscle Proteins,
pubmed-meshheading:9771675-Muscular Dystrophies,
pubmed-meshheading:9771675-Mutation,
pubmed-meshheading:9771675-Pedigree,
pubmed-meshheading:9771675-Reverse Transcriptase Polymerase Chain Reaction
|
|
pubmed:year |
1998
|
|
pubmed:articleTitle |
Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families.
|
|
pubmed:affiliation |
First Department of Internal Medicine, School of Medicine, The University of Tokushima, Japan.
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
